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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Microphthalmia, Cataracts, and Iris Abnormalities
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Accession:DOID:9003342 term browser browse the term
Synonyms:primary_id: MESH:C566448;   RDO:0014799


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show annotations for term's descendants           Sort by:
Microphthalmia, Cataracts, and Iris Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO RGD PMID:20735985 RGD:12880033 NCBI chrNW_004955402:35,956,080...36,001,746
Ensembl chrNW_004955402:35,961,165...35,994,538
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G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia, cataracts, and iris abnormalities ClinVar PMID:10932181 PMID:11341888 PMID:17661825 PMID:23028343 PMID:25741868 More... NCBI chrNW_004955523:1,192,035...1,207,949
Ensembl chrNW_004955523:1,193,686...1,210,641
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6154
      eye disease 3153
        microphthalmia 204
          Microphthalmia, Cataracts, and Iris Abnormalities 2
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11025
      Signs and Symptoms 9123
        Neurologic Manifestations 8823
          sensory system disease 6154
            eye disease 3153
              Eye Abnormalities 733
                coloboma 109
                  Microphthalmia, Cataracts, and Iris Abnormalities 2
paths to the root